Canonical Allele Identifier: CA6216692

Gene: HIKESHI

Linked Data

• dbSNP Id: rs762630579
• ExAC: 11:86017498 T / A
• MyVariant Identifiers: chr11:g.86017498T>A (hg19) ; chr11:g.86306456T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.86306456T>A , CM000673.2:g.86306456T>A	GRCh38
NC_000011.9:g.86017498T>A , CM000673.1:g.86017498T>A	GRCh37
NC_000011.8:g.85695146T>A	NCBI36
NG_046865.1:g.9246T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000278483.8:c.242T>A MANE Select	ENSP00000278483.3:p.Ile81Asn
ENST00000278483.7:c.242T>A	ENSP00000278483.3:p.Ile81Asn
ENST00000528004.5:c.242T>A	ENSP00000433815.1:p.Ile81Asn
ENST00000530208.1:n.317T>A
ENST00000531485.5:n.236+3978T>A
ENST00000532270.5:n.581T>A
ENST00000533986.5:c.242T>A	ENSP00000432699.1:p.Ile81Asn
ENST00000618164.1:c.44T>A	ENSP00000482151.1:p.Ile15Asn
NM_016401.3:c.242T>A	NP_057485.2:p.Ile81Asn
NR_024596.1:n.317T>A
NR_024597.1:n.268+3978T>A
NR_024598.1:n.268+3978T>A
XM_011545097.1:c.125T>A	XP_011543399.1:p.Ile42Asn
XR_949963.1:n.465T>A
NM_001322404.1:c.242T>A	NP_001309333.1:p.Ile81Asn
NM_001322407.1:c.125T>A	NP_001309336.1:p.Ile42Asn
NM_001322409.1:c.125T>A	NP_001309338.1:p.Ile42Asn
NR_136324.1:n.464T>A
XM_017017914.2:c.242T>A	XP_016873403.1:p.Ile81Asn
XM_017017915.1:c.125T>A	XP_016873404.1:p.Ile42Asn
XR_001747904.2:n.451T>A
XR_949963.3:n.451T>A
NM_016401.4:c.242T>A MANE Select	NP_057485.2:p.Ile81Asn
NM_001322404.2:c.242T>A	NP_001309333.1:p.Ile81Asn
NM_001322407.2:c.125T>A	NP_001309336.1:p.Ile42Asn
NM_001322409.2:c.125T>A	NP_001309338.1:p.Ile42Asn
NR_024597.2:n.239+3978T>A
NR_024598.2:n.239+3978T>A
NR_136324.2:n.451T>A